PHD2 - Specimen: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing

Test Catalog

Test ID: PHD2    
Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

This evaluation is recommended for patients presenting with lifelong erythrocytosis, usually with a positive family history of similar symptoms. Polycythemia vera should be excluded prior to testing as it is much more common than hereditary erythrocytosis and can be present even in young patients. A JAK2 V617F or JAK2 exon 12 mutation should not be present. Additionally, p50 testing should be performed and a normal result confirmed before ordering this test. Serum Epo levels are typically normal (inappropriately so for the level of hemoglobin). For a complete evaluation including p50 testing, hemoglobin electrophoresis testing, and hereditary erythrocytosis mutation analysis in an algorithmic fashion, order the erythrocytosis evaluation panel (REVP / Erythrocytosis Evaluation).

Specimen Type Describes the specimen type needed for testing

Whole blood

Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.

Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.

Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.

0.5 mL

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.

Specimen TypeTemperatureTime
Whole bloodRefrigerated30 days